| - GRCh37:
- Chr18:29126335
- GRCh38:
- Chr18:31546372
| DSG2-AS1, DSG2 | G997fs | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104441
- GRCh38:
- Chr18:31524478
| DSG2 | A241T | not provided, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29078264
- GRCh38:
- Chr18:31498301
| DSG2 | | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Nov 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125723-29125724
- GRCh38:
- Chr18:31545760-31545761
| DSG2, DSG2-AS1 | D794fs | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Sep 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104850
- GRCh38:
- Chr18:31524887
| DSG2 | K338M | not provided, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29078275
- GRCh38:
- Chr18:31498312
| DSG2 | | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10 | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29098254
- GRCh38:
- Chr18:31518291
| DSG2 | | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Likely benign (Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29126162
- GRCh38:
- Chr18:31546199
| DSG2-AS1, DSG2 | T938N | Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29100904
- GRCh38:
- Chr18:31520941
| DSG2 | R119* | Cardiovascular phenotype, not provided, Cardiomyopathy
| Conflicting interpretations of pathogenicity (Nov 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29115376
- GRCh38:
- Chr18:31535413
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Likely pathogenic (Feb 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29118873
- GRCh38:
- Chr18:31538910
| DSG2 | H604R | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125874
- GRCh38:
- Chr18:31545911
| DSG2, DSG2-AS1 | G842D | Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB | Uncertain significance (Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126632
- GRCh38:
- Chr18:31546669
| DSG2, DSG2-AS1 | H1095N | Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB | Conflicting interpretations of pathogenicity (Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29111098
- GRCh38:
- Chr18:31531135
| DSG2 | F388C | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB | Uncertain significance (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126117
- GRCh38:
- Chr18:31546154
| DSG2, DSG2-AS1 | P923R | Dilated cardiomyopathy 1A, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29121225
- GRCh38:
- Chr18:31541262
| DSG2 | T650I | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB | Uncertain significance (Jan 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126325
- GRCh38:
- Chr18:31546362
| DSG2, DSG2-AS1 | I992M | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Uncertain significance (Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29098203
- GRCh38:
- Chr18:31518240
| DSG2 | I16T | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Uncertain significance (Nov 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125991
- GRCh38:
- Chr18:31546028
| DSG2, DSG2-AS1 | T881I | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099812
- GRCh38:
- Chr18:31519849
| DSG2 | H43R | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided | Uncertain significance (Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101149
- GRCh38:
- Chr18:31521186
| DSG2 | E156K | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy | Uncertain significance (Dec 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29100782
- GRCh38:
- Chr18:31520819
| DSG2 | A78E | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy
| Uncertain significance (Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29122516
- GRCh38:
- Chr18:31542553
| DSG2, DSG2-AS1 | G679S | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy
| Uncertain significance (Jul 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104751
- GRCh38:
- Chr18:31524788
| DSG2 | N305S | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126297
- GRCh38:
- Chr18:31546334
| DSG2, DSG2-AS1 | G983D | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy | Uncertain significance (Nov 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29078182
- GRCh38:
- Chr18:31498219
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Uncertain significance (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29118882
- GRCh38:
- Chr18:31538919
| DSG2 | Y607C | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Uncertain significance (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125769
- GRCh38:
- Chr18:31545806
| DSG2, DSG2-AS1 | L807P | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Oct 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29111041
- GRCh38:
- Chr18:31531078
| DSG2 | K369M | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104715-29104716
- GRCh38:
- Chr18:31524752-31524753
| DSG2 | V295fs | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, See cases | Pathogenic/Likely pathogenic (Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29116180
- GRCh38:
- Chr18:31536217
| DSG2 | T480I | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Cardiovascular phenotype, not provided
| Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099806
- GRCh38:
- Chr18:31519843
| DSG2 | H41L | Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101207-29101208
- GRCh38:
- Chr18:31521244-31521245
| DSG2 | | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10 | Likely pathogenic (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125938
- GRCh38:
- Chr18:31545975
| DSG2, DSG2-AS1 | M863I | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126091
- GRCh38:
- Chr18:31546128
| DSG2, DSG2-AS1 | | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Likely benign (Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126076
- GRCh38:
- Chr18:31546113
| DSG2, DSG2-AS1 | E909D | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29115244
- GRCh38:
- Chr18:31535281
| DSG2 | L431S | Cardiomyopathy, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29100845
- GRCh38:
- Chr18:31520882
| DSG2 | F99Y | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB | Uncertain significance (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29122565
- GRCh38:
- Chr18:31542602
| DSG2-AS1, DSG2 | T695M | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not specified, not provided, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
| Uncertain significance (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101191-29101195
- GRCh38:
- Chr18:31521228-31521232
| DSG2 | L171fs | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Oct 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29118885-29118886
- GRCh38:
- Chr18:31538922-31538923
| DSG2 | L610fs | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Cardiovascular phenotype | Pathogenic/Likely pathogenic (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29122735
- GRCh38:
- Chr18:31542772
| DSG2, DSG2-AS1 | A753fs | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Pathogenic/Likely pathogenic (Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125855
- GRCh38:
- Chr18:31545892
| DSG2, DSG2-AS1 | L836V | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Dec 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29118706
- GRCh38:
- Chr18:31538743
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy | Benign/Likely benign (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104756
- GRCh38:
- Chr18:31524793
| DSG2 | L307V | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104814
- GRCh38:
- Chr18:31524851
| DSG2 | D326V | Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126544
- GRCh38:
- Chr18:31546581
| DSG2-AS1, DSG2 | | Arrhythmogenic right ventricular dysplasia 10, not specified, not provided, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy | Likely benign (Jan 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125689
- GRCh38:
- Chr18:31545726
| DSG2-AS1, DSG2 | | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Likely benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125820
- GRCh38:
- Chr18:31545857
| DSG2-AS1, DSG2 | R824H | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
| Conflicting interpretations of pathogenicity (Dec 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29125859
- GRCh38:
- Chr18:31545896
| DSG2, DSG2-AS1 | A837D | Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
| Uncertain significance (Dec 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126302
- GRCh38:
- Chr18:31546339
| DSG2-AS1, DSG2 | V985I | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy | Uncertain significance (May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29102135
- GRCh38:
- Chr18:31522172
| DSG2 | P205S | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29115349
- GRCh38:
- Chr18:31535386
| DSG2 | T466I | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29116346
- GRCh38:
- Chr18:31536383
| DSG2 | D535E | not provided, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB | Uncertain significance (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126303
- GRCh38:
- Chr18:31546340
| DSG2, DSG2-AS1 | V986fs | not provided, Dilated cardiomyopathy 1BB, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Aug 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29126490-29126493
- GRCh38:
- Chr18:31546527-31546530
| DSG2-AS1, DSG2 | R1049fs | Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided | Uncertain significance (Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099805
- GRCh38:
- Chr18:31519842
| DSG2 | H41N | not provided, Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
| Likely benign (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29102049
- GRCh38:
- Chr18:31522086
| DSG2 | T176I | Arrhythmogenic right ventricular dysplasia 10, not provided, Cardiomyopathy
| Uncertain significance (Jan 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29122809
- GRCh38:
- Chr18:31542846
| DSG2-AS1, DSG2 | F776L | not provided, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiovascular phenotype, Cardiomyopathy, Primary dilated cardiomyopathy | Uncertain significance (Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104745
- GRCh38:
- Chr18:31524782
| DSG2 | S303F | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29111191
- GRCh38:
- Chr18:31531228
| DSG2 | D419V | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, not provided
| Uncertain significance (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126917
- GRCh38:
- Chr18:31546954
| DSG2, DSG2-AS1 | | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Jul 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126093
- GRCh38:
- Chr18:31546130
| DSG2, DSG2-AS1 | R915T | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
| Uncertain significance (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101176-29101177
- GRCh38:
- Chr18:31521213-31521214
| DSG2 | G166fs | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10 | Pathogenic (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126051
- GRCh38:
- Chr18:31546088
| DSG2, DSG2-AS1 | K901R | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125924
- GRCh38:
- Chr18:31545961
| DSG2, DSG2-AS1 | T859A | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Uncertain significance (Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099892
- GRCh38:
- Chr18:31519929
| DSG2 | I70V | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, not provided | Uncertain significance (Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104798
- GRCh38:
- Chr18:31524835
| DSG2 | F321I | Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29116266
- GRCh38:
- Chr18:31536303
| DSG2 | D509N | Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, not specified, Dilated cardiomyopathy 1BB | Conflicting interpretations of pathogenicity (Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29126404-29126407
- GRCh38:
- Chr18:31546441-31546444
| DSG2, DSG2-AS1 | E1020fs | Cardiovascular phenotype, not provided, Cardiomyopathy, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Primary dilated cardiomyopathy
| Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29125995-29125997
- GRCh38:
- Chr18:31546032-31546034
| DSG2, DSG2-AS1 | S884del | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126516
- GRCh38:
- Chr18:31546553
| DSG2, DSG2-AS1 | T1056I | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29116296
- GRCh38:
- Chr18:31536333
| DSG2 | D519Y | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099903
- GRCh38:
- Chr18:31519940
| DSG2 | | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126099
- GRCh38:
- Chr18:31546136
| DSG2-AS1, DSG2 | A917V | not specified, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Likely benign (May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126615
- GRCh38:
- Chr18:31546652
| DSG2, DSG2-AS1 | G1089V | Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy, not provided | Uncertain significance (Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29116201
- GRCh38:
- Chr18:31536238
| DSG2 | I487T | not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB | Uncertain significance (Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101113
- GRCh38:
- Chr18:31521150
| DSG2 | E144K | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, not provided, Cardiomyopathy, not specified | Uncertain significance (Mar 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29102115
- GRCh38:
- Chr18:31522152
| DSG2 | Y198C | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Hypertrophic cardiomyopathy
| Uncertain significance (Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101207
- GRCh38:
- Chr18:31521244
| DSG2 | | Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Cardiomyopathy
| Pathogenic/Likely pathogenic (Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101226
- GRCh38:
- Chr18:31521263
| DSG2 | | Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not specified, Arrhythmogenic right ventricular dysplasia 10 | Likely benign (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29099782
- GRCh38:
- Chr18:31519819
| DSG2 | N33T | Cardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126630-29126632
- GRCh38:
- Chr18:31546667-31546669
| DSG2, DSG2-AS1 | | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not specified, Cardiomyopathy | Conflicting interpretations of pathogenicity (May 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29122577
- GRCh38:
- Chr18:31542614
| DSG2, DSG2-AS1 | S699I | not specified, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
| Conflicting interpretations of pathogenicity (Dec 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29126558
- GRCh38:
- Chr18:31546595
| DSG2, DSG2-AS1 | T1070M | Cardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Benign/Likely benign (Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29122514
- GRCh38:
- Chr18:31542551
| DSG2, DSG2-AS1 | G678A | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29125717
- GRCh38:
- Chr18:31545754
| DSG2, DSG2-AS1 | H790Y | Cardiovascular phenotype, not provided, not specified, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29126309
- GRCh38:
- Chr18:31546346
| DSG2-AS1, DSG2 | V987A | not specified, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29122786
- GRCh38:
- Chr18:31542823
| DSG2, DSG2-AS1 | E769K | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Dec 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29122733
- GRCh38:
- Chr18:31542770
| DSG2-AS1, DSG2 | T751I | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy, not specified
| Uncertain significance (Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29116219
- GRCh38:
- Chr18:31536256
| DSG2 | N493S | Cardiovascular phenotype, not specified, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not provided, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29110973-29110975
- GRCh38:
- Chr18:31531007-31531009
| DSG2 | K346del | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified, not provided, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance (Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29104526
- GRCh38:
- Chr18:31524563
| DSG2 | I269T | not provided, Cardiomyopathy, not specified, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29121188
- GRCh38:
- Chr18:31541225
| DSG2 | G638R | Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified, not provided | Conflicting interpretations of pathogenicity (Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29104712
- GRCh38:
- Chr18:31524749
| DSG2 | R292H | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified, not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29102103
- GRCh38:
- Chr18:31522140
| DSG2 | S194L | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, not specified, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101208
- GRCh38:
- Chr18:31521245
| DSG2 | | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not provided, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Pathogenic/Likely pathogenic (Jan 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29101156
- GRCh38:
- Chr18:31521193
| DSG2 | V158G | Cardiovascular phenotype, Cardiomyopathy, Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, not specified, not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 1 ...see more | Benign/Likely benign (Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29126644
- GRCh38:
- Chr18:31546681
| DSG2, DSG2-AS1 | T1099A | Cardiovascular phenotype, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10, not specified, Cardiomyopathy, not provided, Arrhythmogenic right ventricular dysplasia 10 | Conflicting interpretations of pathogenicity (Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29126489
- GRCh38:
- Chr18:31546526
| DSG2, DSG2-AS1 | T1047R | Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB, Arrhythmogenic right ventricular dysplasia 10
| Uncertain significance (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |